Simm D, Degenhardt K, Gerdemann C, Völkl T M K, Rauch A, Dörr H G
Kinder- und Jugendklinik, Universität Erlangen-Nürnberg, Germany.
Klin Padiatr. 2008 Jan-Feb;220(1):16-20. doi: 10.1055/s-2007-972569. Epub 2007 Dec 20.
Phenotypically, Turner syndrome (TS) is characterized by great variability, with short stature being the most constant incidence. Growth hormone therapy can achieve a significant improvement in the final size of the patient, which, however, is highly dependent on early diagnosis of the disease. The objective of our study was to determine the age at which the affected girls among our patient collective were diagnosed with TS and which symptoms were indicative.
The time of diagnosis and the reason for karyotyping were retrospectively determined for 117 girls with TS, who had presented at the Hospital for Children and Adolescents of the University of Erlangen, Germany, in the period between 1980 and 2002.
Seven children were prenatally diagnosed with TS by amniocentesis and 27 children were postnatally diagnosed with the disease. TS was diagnosed during infancy in 10 children (median 0.2 years, range 0.1-0.9 yrs.), during early childhood in 4 children (median 1.7 years, range 1.1-2.2 yrs.), and during preschool age in 11 girls (median 5 years, range 4-5.8 yrs.). In 58 girls, i.e. almost 50%, TS was diagnosed after the age of 6: n=27 between the age of 6 and 11 (median 8.9 years, range 6.1-10.8 yrs.) and n=31 after the age of 11 (median 13 years, range 11.1-17 yrs.). Lymphedema (26 cases), dysmorphic symptoms (14 cases), and heart failures (6 cases) were the reason for karyotyping performed at birth and during infancy. With increasing age, TS was diagnosed based on short stature (66 of 73 cases).
The available data shows that the majority of the patients were diagnosed late and that short stature was the most important diagnostic symptom.
从表型上看，特纳综合征（TS）具有很大的变异性，身材矮小是最常见的症状。生长激素治疗可显著改善患者的最终身高，但这高度依赖于疾病的早期诊断。我们研究的目的是确定我们患者群体中受影响女孩被诊断为TS的年龄以及哪些症状具有指示性。
回顾性确定了1980年至2002年间在德国埃尔朗根大学儿童和青少年医院就诊的117例TS女孩的诊断时间和进行核型分析的原因。
7例患儿通过羊膜穿刺术在产前被诊断为TS，27例患儿在出生后被诊断为此病。10例患儿在婴儿期被诊断为TS（中位年龄0.2岁，范围0.1 - 0.9岁），4例患儿在幼儿期被诊断（中位年龄1.7岁，范围1.1 - 2.2岁），11例女孩在学龄前被诊断（中位年龄5岁，范围4 - 5.8岁）。58例女孩，即几乎50%，在6岁后被诊断为TS：27例在6至11岁之间（中位年龄8.9岁，范围6.1 - 10.8岁），31例在11岁后（中位年龄13岁，范围11.1 - 17岁）。淋巴水肿（26例）、畸形症状（14例）和心力衰竭（6例）是在出生时和婴儿期进行核型分析的原因。随着年龄增长，TS的诊断基于身材矮小（73例中的66例）。
现有数据表明，大多数患者诊断较晚，身材矮小是最重要的诊断症状。
